Also known as: PJS
- Familial PJS may be due to a mutation in a gene called STK11. The genetic defect can be inherited through families as an autosomal dominant trait. That means if 1 of your parents has this type of PJS, you have a 50% chance of inheriting the gene and having the disease.
- Sporadic PJS is not passed down through families and appears unrelated to an STK11 gene mutation.
- Part of the intestine folded in on itself (intussusception)
- Benign (noncancerous) tumors in the ear
- Polyps that lead to cancer
- Ovarian cysts
- A type of ovarian tumors called sex cord tumors
Peutz-Jeghers syndrome (PJS) is a disorder in which growths called polyps form in the intestines. It is passed down through families (inherited). A person with PJS has a high risk of developing certain cancers.
It is unknown how many people are affected by PJS. However, the National Institutes of Health estimates that it affects about 1 in 25,000 to 300,000 births.
There are 2 types of PJS:
Symptoms of PJS are:
Exams and Tests
The polyps develop mainly in the small intestine, but also in the large intestine (colon). An exam of the colon called a colonoscopy will show colon polyps. The small intestine is evaluated in 2 ways. One is a barium x-ray (small bowel series). The other is a capsule endoscopy, in which a small camera is swallowed and then takes many pictures as it travels through the small intestine.
Additional exams may show:
Laboratory tests may include:
Surgery may be needed to remove polyps that cause long-term problems. Iron supplements help counteract blood loss.
People with this condition should be monitored by a health care provider and checked regularly for cancerous polyp changes.
There may be a high risk for these polyps becoming cancerous. Some studies link PJS with cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.
Complications may include:
When to Contact a Medical Professional
Call for an appointment with your provider if you or your baby has symptoms of this condition. Severe abdominal pain may be a sign of an emergency condition such as intussusception.
Genetic counseling is recommended if you are planning to have children and have a family history of this condition.
Donoghue LJ. Tumors of the digestive tract. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 345.
McGarrity TJ, Amos CI, Frazier ML, Wei C. Peutz-Jeghers syndrome. GeneReviews. Seattle, WA: University of Washington; 2013:7. www.ncbi.nlm.nih.gov/books/NBK1266/ Accessed October 27, 2015.
- Review date:
- December 07, 2016
- Reviewed by:
- Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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